Tumour-induced osteomalacia (TIO), also known as oncogenic osteomalacia, is an uncommon paraneoplastic syndrome which poses a diagnostic challenge. The hallmark feature is severe acquired hypophosphataemic osteomalacia due to renal phosphate wasting because of increased secretion of fibroblast growth factor 23 (FGF-23). A man in his 30s, presented with a 4-year history of severe muscle aches, bone pain and proximal muscle weakness, was referred for evaluation. His laboratory examination revealed severe hypophosphataemia as a result of urinary phosphate wasting, low 1,25-dihydroxyvitamin D, high alkaline phosphatase and elevated FGF-23. We could localise the tumour to his right femur and the biopsy showed a mesenchymal origin. The treatment with pharmacotherapy and radiofrequency ablation helped in the normalisation of blood chemistry and resulted in significant clinical improvement. Hypophosphataemia, phosphaturia, elevated FGF-23 and low 1,25-dihydroxyvitamin D level with severe musculoskeletal pain and muscle weakness necessitate careful evaluation of TIO.
Childhood onset dystonia are generally genetic. NBIA is one of the commonest cause. We present ve
cases with a characteristic upper limb dystonia in patients of suspected PKAN with MRI Brain showing
classical 'Eye of tiger' sign.
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